Canonical Allele Identifier: CA2586966583

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930760_42930762del , CM000663.2:g.42930760_42930762del	GRCh38
NC_000001.10:g.43396431_43396433del , CM000663.1:g.43396431_43396433del	GRCh37
NC_000001.9:g.43169018_43169020del	NCBI36
NG_008232.1:g.33420_33422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.385_387del MANE Select	ENSP00000416293.2:p.Ile129del
ENST00000674765.1:c.385_387del	ENSP00000501811.1:p.Ile129del
ENST00000675112.1:n.408_410del
ENST00000676254.1:n.834_836del
ENST00000372500.4:c.289_291del	ENSP00000361578.4:p.Ile97del
ENST00000426263.7:c.385_387del	ENSP00000416293.2:p.Ile129del
ENST00000439722.2:c.264_266del	ENSP00000395521.2:n.264_266del
ENST00000475162.3:c.284_286del
ENST00000625233.2:n.593_595del
ENST00000630287.2:c.385_387del	ENSP00000486694.1:p.Ile129del
NM_006516.2:c.385_387del	NP_006507.2:p.Ile129del
NM_006516.3:c.385_387del	NP_006507.2:p.Ile129del
NM_006516.4:c.385_387del MANE Select	NP_006507.2:p.Ile129del